Varaico: Literature-Extracted Genetic Variants

Gene:RTTN
Variant:p.Q920delFs

RTTN

181 papers

RefSeq Summary

This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation...

Pfam Domains

RTTN_Naa 16–112UCSCRotatin, an armadillo repeat protein, centriole functioning

Gene Aliases

HGNC Name

rotatin

HGNC Alias Symbol

DKFZP434G145

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173630.4
p.Q920delFs
c.2758_2759delTG
Surrounding Variants
1 paper
NM_173630.4
p.Q920fs
c.2758_2759fs
1 paper
NM_173630.4
p.R929K
c.2786G>A
1 paper
NM_173630.4
p.V930Splc
c.2788+2T>G
1 paper
NM_173630.4
p.C899*
c.2697C>A
1 paper
NM_173630.4
p.V892I
c.2674G>A
1 paper
NM_173630.4
p.V891fs
c.2671_2672fs
1 paper
NM_173630.4
p.C872R
c.2614T>C
1 paper
NM_173630.4
p.A866_V867insFs
c.2598_2599insT
7 papers
NM_173630.4
p.H865R
c.2594A>G
1 paper
NM_173630.4
p.D861N
c.2581G>A
1 paper
NM_173630.4
p.F838Y
c.2513T>A
2 papers
NM_173630.4
p.E836K
c.2506G>A
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